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SNP ID: rs200363094
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.3:48562914 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: GGGACATCCAGCGATAGGACAATGC[A/G]CGAGCCAGGGTGGCGGGTGGGGCTG
Phenotype: MIM: 120120 MIM: 605320 MIM: 605902
Polymorphism: A/G, Transition substitution
Allele Nomenclature
Literature Links: COL7A1 PubMed Links

Gene Details

Gene: COL7A1
Gene Name: collagen type VII alpha 1

There are no transcripts associated with this gene.

Gene: PFKFB4
Gene Name: 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001317134.1	289	Intron			NP_001304063.1
NM_001317135.1	289	Intron			NP_001304064.1
NM_001317136.1	289	Intron			NP_001304065.1
NM_001317137.1	289	Intron			NP_001304066.1
NM_001317138.1	289	Intron			NP_001304067.1
NM_004567.3	289	Intron			NP_004558.1
XM_011533829.2	289	Intron			XP_011532131.1
XM_017006614.1	289	Intron			XP_016862103.1
XM_017006615.1	289	Intron			XP_016862104.1
XM_017006616.1	289	Intron			XP_016862105.1
XM_017006617.1	289	Intron			XP_016862106.1

Gene: UCN2
Gene Name: urocortin 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_033199.3	289	Missense Mutation			NP_149976.1

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